Congenital disorder of glycosylation, type II h (COG8)
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000596297.2
INHERITED DISEASEMETABOLIC DISEASE
Last updated in GTR: 2021-11-24
Last annual review date for the lab: 2023-10-12 LinkOut
At a Glance
Diagnosis; Mutation Confirmation
COG8-congenital disorder of glycosylation
Genes (1): Help
COG8 (16q22.1)
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Amsterdam UMC, Location AMC
View lab's website
Test short name: Help
CDG IIh
Specimen Source: Help
  • Amniocytes
  • Cell culture
  • Chorionic villi
  • Cord blood
  • Fibroblasts
  • Frozen tissue
  • Isolated DNA
  • Peripheral (whole) blood
  • White blood cell prep
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
Test Order Code: Help
Congenital disorder of glycosylation, type II h
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Information and request forms can be found at the website.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Custom Sequence Analysis
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
PCR-based sequencing detects 95% of the reported mutations in the COG8 gene. The sensitivity of DNA sequencing is over 97% for the detection of nucleotide base changes, small deletions and insertions in the regions analyzed.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.